ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.410C>G (p.Ala137Gly)

gnomAD frequency: 0.00002  dbSNP: rs779597637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338186 SCV001531838 uncertain significance Leber congenital amaurosis 13 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 137 of the RDH12 protein (p.Ala137Gly). This variant is present in population databases (rs779597637, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035332). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001830399 SCV002091268 uncertain significance Leber congenital amaurosis 2020-09-15 no assertion criteria provided clinical testing

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